{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T10:43:29Z","timestamp":1790073809898,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,1,31]],"date-time":"2006-01-31T00:00:00Z","timestamp":1138665600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To describe the prenatal findings in Pierson syndrome, a newly defined autosomal recessive entity, comprising congenital nephrotic syndrome (CNS) with diffuse mesangial sclerosis and distinct eye abnormalities due to <jats:italic>LAMB2<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Serial prenatal ultrasound examinations were performed in four consecutive pregnancies affected by Pierson syndrome in the same family. <jats:italic>LAMB2<\/jats:italic> mutations were demonstrated in retrospect by direct sequencing of the gene in the newborn index patient and three abortuses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fetal ultrasound consistently revealed marked renal hyperechogenicity associated with variable degree of pyelectasis. These features were detectable by 15 weeks of gestation in all fetuses. Hydrops fetalis due to severe hypalbuminemia demonstrated by chordocentesis occurred in one fetus. Placentas were significantly enlarged. Development of oligohydramnios indicated prenatal decline of renal excretory function. Anencephaly was detected in another fetus with molecularly proven Pierson syndrome at 12 weeks of gestation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We conclude that Pierson syndrome has to be considered in the differential diagnosis of nephrotic disorders with prenatal onset. Ultrasound criteria for differentiation from the most common type of CNS\u2013congenital nephrosis of the Finnish type (CNF)\u2013are discussed. Because of its prognostic relevance, we advocate molecular genetic testing of <jats:italic>LAMB2<\/jats:italic> in any case of prenatally detected nephrotic syndrome with negative results of <jats:italic>NPHS1<\/jats:italic> mutational screening, especially in the presence of the typical sonomorphologic findings of the kidneys and the development of oligohydramnios. Copyright \u00a9 2006 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1393","type":"journal-article","created":{"date-parts":[[2006,1,31]],"date-time":"2006-01-31T17:46:27Z","timestamp":1138729587000},"page":"262-266","source":"Crossref","is-referenced-by-count":32,"title":["Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome"],"prefix":"10.1002","volume":"26","author":[{"given":"Karlheinz","family":"Mark","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Zenker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,1,31]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00862514"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00857534"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000264291"},{"key":"e_1_2_1_5_1","first-page":"S51","article-title":"Congenital nephrotic syndrome","volume":"53","author":"Holmberg C","year":"1996","journal-title":"Kidney Int Suppl"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/338229a0"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.903230208"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.51.5.344"},{"key":"e_1_2_1_9_1","first-page":"1708","volume-title":"Principles and Practice of Medical Genetics","author":"Jalanko H","year":"2002"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.589"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1357-2725(99)00030-8"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.143.6.1713"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/374258a0"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2003.22.10.1097"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)08504-5"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00330-003-1920-x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.121"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh284"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30310"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1393","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1393","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T05:33:21Z","timestamp":1700026401000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1393"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,1,31]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,3]]}},"alternative-id":["10.1002\/pd.1393"],"URL":"https:\/\/doi.org\/10.1002\/pd.1393","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,1,31]]}}}